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Other sex chromosome abnormalities, male phenotype, not elsewhere classified

Endpoint Browser PheWeb

Q17_OTHER_SEX_CHROMOSOME_ABNORMALITI_MALE_PHENOT_NOT_ELSEW_CLASSIFIED

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

519972

1. Apply sex-specific rule

only males

226754

2. Check conditions

None

226754

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — Q98
  • Cause of death: ICD-10 — Q98

2 out of 7 registries used, show all original rules.

126

4. Check minimum number of events

None

126

5. Include endpoints

None

126

6. Filter based on genotype QC (FinnGen only)

65

Control definitions (FinnGen only)

Control exclude
Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF12
Parent code in ICD-10
Q9
Name in latin
Aliae abnormitates chromosomatum sexualium patientis phaenotypo masculini non alibi classificatae

Case counts by codes

↥

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

All Female Male
Number of individuals 65 - 65
Unadjusted period prevalence (%) 0.03 - 0.03
Median age at first event (years) 25.06 - 25.06

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS

↥

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

Matched cohort

Matched cases
126
Matched controls
1260
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q98.0
ICD-10 Finland
Klinefelter syndrome karyotype 47,XXY
+∞
92.4
77
*
G03BA03
ATC
testosterone; systemic, rectal, sublingual, transdermal
30.3
82.5
68
47
121
Kela drug reimbursment
Severe hypofunction of sexual glands
176.1
59.0
58
6
Q98.4
ICD-10 Finland
Klinefelter syndrome, unspecified
+∞
55.4
49
*
Z31.5
ICD-10 Finland
Genetic counselling
16.1
42.1
42
38
Q98.5
ICD-10 Finland
Karyotype 47,XYY
+∞
22.6
21
*
N46
ICD-10 Finland
Male infertility
20.8
22.1
33
21
E29.1
ICD-10 Finland
Testicular hypofunction
17.0
15.8
25
18
Y28
ICPC
Limited function/disability (Y)
47.9
11.1
13
*
WVA30, ,
SPAT
8.8
10.8
23
31
KFB01
NOMESCO Finland
Microscope-assisted testicular biopsy for assisted reproduction treatments
119.5
10.6
11
*
Q98.6
ICD-10 Finland
Male with structurally abnormal sex chromosome
+∞
10.6
10
*
L02BG04
ATC
letrozole; oral
32.8
9.6
12
*
Q98.8
ICD-10 Finland
Other specified sex chromosome abnormalities, male phenotype
+∞
9.5
9
*
B01AA03
ATC
warfarin; systemic
5.0
8.5
20
46
I87.2
ICD-10 Finland
Venous insufficiency (chronic)(peripheral)
10.5
8.0
15
16
A46
ICD-10 Finland
Erysipelas
4.1
7.7
24
69
R03BA02
ATC
budesonide; inhalant
3.5
7.7
31
107
R03AK07
ATC
formoterol and budesonide; inhalant
3.3
7.5
34
126
Q98.1
ICD-10 Finland
Klinefelter syndrome, male with more than two X chromosomes
+∞
7.4
7
*
A55
ICPC
General and Unspecified, Local injection/infiltration
21.5
7.3
10
5
R05DA20
ATC
opium alkaloids and derivatives - combinations
2.9
6.7
39
167
E66.01
ICD-10 Finland
Obesity due to excess calories
4.5
6.6
17
42
T28
ICPC
Limited function/disability (T)
28.2
6.3
8
*
EBA15
NOMESCO Finland
Extraction of multiple teeth
7.9
6.1
13
18
SPAT1256
SPAT
Intramuscular and subcutaneous injection
2.6
6.0
52
271

LabWAS

↥
OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
80
178
10.57
40.53
5.6
2.5
13.09
16.06
nmol/l
3.01
74
172
43
57
10.93
32.79
2.9
1.5
13.47
3.71
u/l
5.29
33
46
26
30
10.66
21.45
2.5
1.6
24.55
7.49
iu/l
2.68
18
20
17
14
13.82
10.20
1.0
1.0
—
—
—
0
0
29
94
3.71
7.90
1.9
2.4
—
—
—
0
0
40
177
2.85
6.43
2.0
2.7
1.07
0.92
mg/l
0.18
30
128
40
205
2.39
4.61
3.6
3.3
7.38
7.40
ph
1.01
12
36
25
107
2.67
4.16
2.8
1.8
—
—
—
0
0
113
940
2.96
3.61
16.8
12.1
4.00
4.00
mmol/l
0.02
108
921
8
13
6.49
3.56
1.4
1.5
—
—
—
0
0
118
1035
3.20
3.37
13.5
9.0
—
—
—
0
0
45
271
2.03
3.35
4.6
7.3
—
—
—
0
0
43
258
2.01
3.22
2.0
2.2
—
—
—
0
0
35
197
2.08
3.10
2.1
1.6
102.36
98.06
pmol/l
0.14
20
103
70
501
1.89
3.08
5.2
6.2
6.54
6.66
mmol/l
0.16
63
481
66
464
1.89
3.06
9.0
9.1
0.00
0.00
e9/l
0.50
55
370
76
575
1.81
2.65
8.7
10.9
4.00
3.95
e9/l
0.06
68
503
32
187
1.95
2.52
1.4
1.7
—
—
—
0
0
8
21
3.99
2.51
4.0
2.7
80.50
115.70
ug/l
—
8
21
18
84
2.33
2.49
2.3
2.0
352.00
336.39
nmol/l
0.20
18
74
31
181
1.95
2.45
1.4
1.6
—
—
—
0
0
68
508
1.74
2.39
5.2
7.2
0.57
0.57
e9/l
0.03
60
443
68
508
1.74
2.39
5.2
7.2
0.04
0.04
e9/l
0.14
60
443
68
513
1.71
2.26
3.4
3.4
—
—
—
0
0
69
523
1.71
2.26
5.4
7.3
1.96
2.00
e9/l
0.12
63
462
33
202
1.86
2.26
1.9
2.3
0.48
0.67
ug/l
1.18
25
94
23
124
2.05
2.25
3.0
3.0
1.19
0.32
e6/l
0.78
11
64
23
124
2.05
2.25
3.0
2.4
—
—
—
0
0
35
220
1.82
2.20
3.2
2.9
—
—
—
0
0
68
516
1.69
2.19
6.8
7.9
0.23
0.20
e9/l
0.81
62
457
19
99
2.08
2.03
1.7
2.8
2.44
2.41
mmol/l
1.25
19
89
23
129
1.96
2.03
1.3
1.6
—
—
—
0
0
45
311
1.70
2.02
24.2
7.6
1.37
1.18
inr
0.47
15
92
112
993
2.15
1.99
15.8
10.6
17.75
23.22
mg/l
1.40
86
730
5
11
4.68
1.96
2.0
1.7
1.52
1.70
mmol/l
—
5
11
6
17
3.65
1.86
3.0
2.3
23.32
24.29
mmol/l
—
6
17
5
12
4.29
1.84
1.2
1.0
—
—
—
0
0
15
75
2.14
1.78
1.6
1.5
1163.40
1330.81
nmol/l
—
10
57
33
217
1.71
1.76
3.4
2.9
0.36
0.34
e6/l
0.03
24
164
8
31
2.69
1.69
2.9
3.2
—
—
—
0
0
9
185
0.45
1.67
1.1
1.3
—
—
—
0
0
19
107
1.91
1.66
1.2
1.2
—
—
—
0
0
7
26
2.79
1.60
1.1
1.0
—
—
—
0
0
51
383
1.56
1.58
7.7
9.0
1.22
1.21
mmol/l
0.33
43
340
12
59
2.14
1.49
3.9
2.5
—
—
—
0
0
35
244
1.60
1.48
3.3
2.8
7.93
16.84
e6/l
0.81
26
188
7
28
2.59
1.47
1.1
1.6
158.41
227.69
pmol/l
—
7
28
23
146
1.70
1.38
3.4
2.7
27.94
1221.30
ng/l
1.03
16
100
28
190
1.61
1.31
2.8
3.0
381.78
367.58
umol/l
0.32
23
168
59
472
1.47
1.31
6.5
7.7
—
—
—
0
0
16
95
1.78
1.20
1.3
1.7
—
—
—
0
0
49
384
1.45
1.18
2.6
2.4
0.00
0.00
estimate
—
10
62
37
276
1.48
1.14
3.8
3.4
151.10
165.58
e6/l
0.03
28
195
66
555
1.40
1.05
3.6
2.9
—
—
—
0
0
7
34
2.12
1.04
1.7
1.2
—
—
—
0
0
33
245
1.47
1.04
1.2
1.6
—
—
—
0
0
25
176
1.52
1.01
4.6
2.9
—
—
—
0
0
16
102
1.65
0.96
1.4
1.2
0.77
4.99
u/ml
—
6
47
47
378
1.39
0.95
3.6
3.5
0.00
0.00
estimate
-0.00
11
72
47
379
1.38
0.94
2.7
2.5
0.00
0.00
estimate
-0.00
11
69
28
210
1.43
0.83
2.4
1.9
—
—
—
0
0
8
47
1.75
0.82
1.0
1.2
—
—
—
0
0
26
193
1.44
0.82
3.4
2.6
0.00
0.01
estimate
0.49
11
67
0
26
0.00
0.79
0.0
4.2
—
3.85
—
0
26
14
92
1.59
0.76
2.1
2.1
—
—
—
0
0
5
25
2.04
0.73
1.8
1.8
—
—
—
0
0
7
41
1.75
0.71
9.7
20.8
—
—
—
0
0
5
27
1.89
0.69
2.0
1.6
—
—
—
0
0
5
27
1.89
0.69
1.4
1.3
—
—
—
0
0
27
211
1.36
0.64
3.1
2.5
—
—
—
0
0
8
50
1.64
0.62
1.0
1.0
—
—
—
0
0
17
228
0.71
0.62
1.4
1.3
—
—
—
0
0
8
52
1.57
0.61
1.4
1.5
—
—
—
0
0
9
60
1.54
0.56
1.9
1.3
—
—
—
0
0
6
39
1.56
0.54
1.3
1.2
—
—
—
0
0
30
245
1.29
0.53
2.0
1.6
2.42
2.26
g/l
0.15
16
147
10
67
1.53
0.51
1.3
1.2
352.17
189.74
u/ml
—
10
61
32
267
1.27
0.49
1.4
1.5
0.55
2.26
u/ml
—
6
57
17
218
0.75
0.47
1.4
1.6
—
—
—
0
0
35
406
0.81
0.45
3.3
2.3
—
—
—
0
0
25
206
1.27
0.42
9.2
4.8
—
—
—
0
0
0
15
0.00
0.41
0.0
1.0
—
—
—
0
0
0
16
0.00
0.41
0.0
2.1
—
654.06
—
0
16
0
18
0.00
0.40
0.0
1.1
—
—
—
0
0
9
66
1.39
0.39
1.3
1.2
—
—
—
0
0
7
52
1.37
0.32
1.3
1.5
—
—
—
0
0
7
55
1.29
0.30
4.6
4.3
—
—
—
0
0
32
284
1.17
0.27
5.9
2.7
13.29
21.25
ng/l
1.00
19
158
16
133
1.23
0.26
1.3
1.3
—
—
—
0
0
5
38
1.33
0.23
1.4
1.3
—
—
—
0
0
5
41
1.23
0.22
1.4
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.7
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
0.41
—
0
10
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
3.0
—
32.43
—
0
6
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
20
175
1.17
0.20
3.0
2.9
—
—
—
0
0
13
109
1.21
0.19
11.0
9.2
25.27
25.26
mmol/l
0.01
13
109
5
70
0.70
0.17
1.2
1.1
—
—
—
0
0
8
68
1.19
0.17
3.3
1.8
1.82
0.94
g/l
—
8
63
8
69
1.17
0.17
10.0
16.7
137.00
131.50
g/l
—
8
64
13
116
1.13
0.09
5.5
6.8
—
—
—
0
0
16
175
0.90
0.09
2.8
2.8
—
1.02
—
0
14
6
54
1.12
0.09
1.0
1.2
—
—
—
0
0
10
88
1.15
0.08
3.1
4.4
—
—
—
0
0
12
108
1.12
0.07
10.3
9.4
105.33
104.56
mmol/l
0.37
12
108
8
77
1.04
0.07
10.0
15.4
95.52
96.29
%
—
8
72
9
87
1.04
0.07
8.0
14.1
5.06
5.28
kpa
—
9
80
9
87
1.04
0.07
7.9
14.1
13.68
12.88
kpa
—
9
80
12
130
0.91
0.05
3.0
2.2
—
—
—
0
0
11
118
0.93
0.03
11.1
7.9
—
—
—
0
0
13
134
0.97
0.00
3.3
2.7
—
—
—
0
0
10
99
1.01
0.00
4.0
2.9
—
—
—
0
0
10
103
0.97
0.00
1.3
1.3
—
—
—
0
0
13
133
0.97
0.00
3.1
2.7
—
—
—
0
0
13
133
0.97
0.00
2.8
2.7
—
—
—
0
0
12
122
0.98
0.00
3.0
2.8
—
—
—
0
0
5
58
0.86
0.00
13.2
9.8
0.22
0.73
%
—
5
58
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
32.64
—
0
7
0
9
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
8.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.1
—
—
—
0
0
5
59
0.84
-0.00
13.2
9.7
1.16
1.84
%
—
5
59
8
88
0.90
-0.00
10.4
4.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
5
53
0.94
-0.00
1.6
12.5
—
—
—
0
0
9
91
0.99
-0.00
3.2
3.0
10.22
9.87
g/l
—
9
84
0
5
0.00
-0.00
0.0
1.0
—
948.60
—
0
5
0
5
0.00
-0.00
0.0
14.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
9.20
—
0
5
0
7
0.00
-0.00
0.0
2.3
—
1.64
—
0
7
0
6
0.00
-0.00
0.0
1.0
—
5.44
—
0
6
0
9
0.00
-0.00
0.0
1.4
—
78.00
—
0
9
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
451.40
—
0
5
0
6
0.00
-0.00
0.0
1.2
—
1.66
—
0
6
8
86
0.93
-0.00
2.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
168.00
—
0
8
0
7
0.00
-0.00
0.0
5.4
—
9.76
—
0
7

Mortality – FinRegistry

↥

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

↥

Index endpoint: Q17_OTHER_SEX_CHROMOSOME_ABNORMALITI_MALE_PHENOT_NOT_ELSEW_CLASSIFIED – Other sex chromosome abnormalities, male phenotype, not elsewhere classified

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).